September 22, 2021
Author(s)
Fahad Kidwai, Byron Mui, Konstantinia Almpani, Priyam Jani, Cyrus Keyvanfar, Kulsum Iqbal, Sriram Paravastu, Deepika Arora, Pamela Orzechowski, Randall Merling, Barbara Mallon, Jeremiah Woodcock, Vamsee Myneni, Moaz Ahmad, Paul Kruszka, Maximilian Muenke, Pamela Robey, Janice Lee
In this case report, we focus on Muenke syndrome (MS), a disease caused by the p.Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) and characterized by uni- or bilateral coronal suture synostosis, macrocephaly without craniosynostosis